Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Identifieur interne : 001F89 ( Pmc/Curation ); précédent : 001F88; suivant : 001F90Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Auteurs : Gillian I. Rice [Royaume-Uni] ; Paul R. Kasher [Royaume-Uni] ; Gabriella M A. Forte [Royaume-Uni] ; Niamh M. Mannion [Royaume-Uni] ; Sam M. Greenwood [Royaume-Uni] ; Marcin Szynkiewicz [Royaume-Uni] ; Jonathan E. Dickerson [Royaume-Uni] ; Sanjeev S. Bhaskar [Royaume-Uni] ; Massimiliano Zampini [Royaume-Uni] ; Tracy A. Briggs [Royaume-Uni] ; Emma M. Jenkinson [Royaume-Uni] ; Carlos A. Bacino [États-Unis] ; Roberta Battini [Italie] ; Enrico Bertini [Italie] ; Paul A. Brogan [Royaume-Uni] ; Louise A. Brueton [Royaume-Uni] ; Marialuisa Carpanelli [Italie] ; Corinne De Laet [Belgique] ; Pascale De Lonlay [France] ; Mireia Del Toro [Espagne] ; Isabelle Desguerre [France] ; Elisa Fazzi [Italie] ; Àngels Garcia-Cazorla [Espagne] ; Arvid Heiberg [Norvège] ; Masakazu Kawaguchi [Japon] ; Ram Kumar [Royaume-Uni] ; Jean-Pierre S-M Lin [Royaume-Uni] ; Charles M. Lourenco [Brésil] ; Alison M. Male [Royaume-Uni] ; Wilson Marques [Brésil] ; Cyril Mignot [France] ; Ivana Olivieri [Italie] ; Simona Orcesi [Italie] ; Prab Prabhakar [Royaume-Uni] ; Magnhild Rasmussen [Norvège] ; Robert A. Robinson [Royaume-Uni] ; Flore Rozenberg [France] ; Johanna L. Schmidt [États-Unis] ; Katharina Steindl [Suisse] ; Tiong Y. Tan [Australie] ; William G. Van Der Merwe [Royaume-Uni] ; Adeline Vanderver [États-Unis] ; Grace Vassallo [Royaume-Uni] ; Emma L. Wakeling [Royaume-Uni] ; Evangeline Wassmer [Royaume-Uni] ; Elizabeth Whittaker [Royaume-Uni] ; John H. Livingston [Royaume-Uni] ; Pierre Lebon [France] ; Tamio Suzuki [Japon] ; Paul J. Mclaughlin [Royaume-Uni] ; Liam P. Keegan [Royaume-Uni] ; Mary A. O Onnell [Royaume-Uni] ; Simon C. Lovell [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni]Source :
- Nature genetics [ 1061-4036 ] ; 2012.
Abstract
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in
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DOI: 10.1038/ng.2414
PubMed: 23001123
PubMed Central: 4154508
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Kasher</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. 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Mannion</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Greenwood, Sam M" sort="Greenwood, Sam M" uniqKey="Greenwood S" first="Sam M" last="Greenwood">Sam M. 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Dickerson</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S" last="Bhaskar">Sanjeev S. Bhaskar</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Bacino, Carlos A" sort="Bacino, Carlos A" uniqKey="Bacino C" first="Carlos A" last="Bacino">Carlos A. Bacino</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="1"><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><affiliation wicri:level="1"><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London (UCL) Institute of Child Health, London</wicri:regionArea></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation wicri:level="1"><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco</wicri:regionArea></affiliation></author><author><name sortKey="Laet, Corinne De" sort="Laet, Corinne De" uniqKey="Laet C" first="Corinne De" last="Laet">Corinne De Laet</name><affiliation wicri:level="1"><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels</wicri:regionArea></affiliation></author><author><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name><affiliation wicri:level="1"><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name><affiliation wicri:level="1"><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="1"><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia</wicri:regionArea></affiliation></author><author><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name><affiliation wicri:level="1"><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation wicri:level="1"><nlm:aff id="A19">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Male, Alison M" sort="Male, Alison M" uniqKey="Male A" first="Alison M" last="Male">Alison M. Male</name><affiliation wicri:level="1"><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London</wicri:regionArea></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="1"><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation wicri:level="1"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Schmidt, Johanna L" sort="Schmidt, Johanna L" uniqKey="Schmidt J" first="Johanna L" last="Schmidt">Johanna L. Schmidt</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation wicri:level="1"><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Schwerzenbach</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation wicri:level="1"><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Merwe, William G" sort="Van Der Merwe, William G" uniqKey="Van Der Merwe W" first="William G" last="Van Der Merwe">William G. Van Der Merwe</name><affiliation wicri:level="1"><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Department, Nobles Hospital, Strang</wicri:regionArea></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation wicri:level="1"><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Royal Manchester Children’s Hospital, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation wicri:level="1"><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow</wicri:regionArea></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation wicri:level="1"><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Birmingham Children’s Hospital, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation wicri:level="1"><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Academic Department of Paediatrics, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="1"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea></affiliation></author><author><name sortKey="Mclaughlin, Paul J" sort="Mclaughlin, Paul J" uniqKey="Mclaughlin P" first="Paul J" last="Mclaughlin">Paul J. Mclaughlin</name><affiliation wicri:level="1"><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Keegan, Liam P" sort="Keegan, Liam P" uniqKey="Keegan L" first="Liam P" last="Keegan">Liam P. Keegan</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="O Onnell, Mary A" sort="O Onnell, Mary A" uniqKey="O Onnell M" first="Mary A" last="O Onnell">Mary A. O Onnell</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Lovell, Simon C" sort="Lovell, Simon C" uniqKey="Lovell S" first="Simon C" last="Lovell">Simon C. Lovell</name><affiliation wicri:level="1"><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23001123</idno><idno type="pmc">4154508</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154508</idno><idno type="RBID">PMC:4154508</idno><idno type="doi">10.1038/ng.2414</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002136</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002136</idno><idno type="wicri:Area/Pmc/Curation">001F89</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001F89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>ADAR1</italic> cause Aicardi-Goutières syndrome associated with a type I interferon signature</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R" last="Kasher">Paul R. Kasher</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Mannion, Niamh M" sort="Mannion, Niamh M" uniqKey="Mannion N" first="Niamh M" last="Mannion">Niamh M. Mannion</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Greenwood, Sam M" sort="Greenwood, Sam M" uniqKey="Greenwood S" first="Sam M" last="Greenwood">Sam M. Greenwood</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Dickerson, Jonathan E" sort="Dickerson, Jonathan E" uniqKey="Dickerson J" first="Jonathan E" last="Dickerson">Jonathan E. Dickerson</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S" last="Bhaskar">Sanjeev S. Bhaskar</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Bacino, Carlos A" sort="Bacino, Carlos A" uniqKey="Bacino C" first="Carlos A" last="Bacino">Carlos A. Bacino</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="1"><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><affiliation wicri:level="1"><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London (UCL) Institute of Child Health, London</wicri:regionArea></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation wicri:level="1"><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco</wicri:regionArea></affiliation></author><author><name sortKey="Laet, Corinne De" sort="Laet, Corinne De" uniqKey="Laet C" first="Corinne De" last="Laet">Corinne De Laet</name><affiliation wicri:level="1"><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels</wicri:regionArea></affiliation></author><author><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name><affiliation wicri:level="1"><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name><affiliation wicri:level="1"><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="1"><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia</wicri:regionArea></affiliation></author><author><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name><affiliation wicri:level="1"><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation wicri:level="1"><nlm:aff id="A19">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Male, Alison M" sort="Male, Alison M" uniqKey="Male A" first="Alison M" last="Male">Alison M. Male</name><affiliation wicri:level="1"><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London</wicri:regionArea></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="1"><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation wicri:level="1"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Schmidt, Johanna L" sort="Schmidt, Johanna L" uniqKey="Schmidt J" first="Johanna L" last="Schmidt">Johanna L. Schmidt</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation wicri:level="1"><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Schwerzenbach</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation wicri:level="1"><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Merwe, William G" sort="Van Der Merwe, William G" uniqKey="Van Der Merwe W" first="William G" last="Van Der Merwe">William G. Van Der Merwe</name><affiliation wicri:level="1"><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Department, Nobles Hospital, Strang</wicri:regionArea></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation wicri:level="1"><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Royal Manchester Children’s Hospital, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation wicri:level="1"><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow</wicri:regionArea></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation wicri:level="1"><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Birmingham Children’s Hospital, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation wicri:level="1"><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Academic Department of Paediatrics, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="1"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea></affiliation></author><author><name sortKey="Mclaughlin, Paul J" sort="Mclaughlin, Paul J" uniqKey="Mclaughlin P" first="Paul J" last="Mclaughlin">Paul J. Mclaughlin</name><affiliation wicri:level="1"><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Keegan, Liam P" sort="Keegan, Liam P" uniqKey="Keegan L" first="Liam P" last="Keegan">Liam P. Keegan</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="O Onnell, Mary A" sort="O Onnell, Mary A" uniqKey="O Onnell M" first="Mary A" last="O Onnell">Mary A. O Onnell</name><affiliation wicri:level="1"><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea></affiliation></author><author><name sortKey="Lovell, Simon C" sort="Lovell, Simon C" uniqKey="Lovell S" first="Simon C" last="Lovell">Simon C. Lovell</name><affiliation wicri:level="1"><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="1"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in <italic>ADAR1</italic> (also known as <italic>ADAR</italic>) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in <italic>Adar1</italic>-null mice, the human disease state is associated with upregulation of interferon-stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon signaling. Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23001123</article-id><article-id pub-id-type="pmc">4154508</article-id><article-id pub-id-type="doi">10.1038/ng.2414</article-id><article-id pub-id-type="manuscript">NIHMS624328</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>ADAR1</italic> cause Aicardi-Goutières syndrome associated with a type I interferon signature</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rice</surname><given-names>Gillian I</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kasher</surname><given-names>Paul R</given-names></name><xref 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rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Fazzi</surname><given-names>Elisa</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Garcia-Cazorla</surname><given-names>Àngels</given-names></name><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Heiberg</surname><given-names>Arvid</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Kawaguchi</surname><given-names>Masakazu</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Kumar</surname><given-names>Ram</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Jean-Pierre S-M</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Lourenco</surname><given-names>Charles M</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Male</surname><given-names>Alison M</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Marques</surname><given-names>Wilson</given-names><suffix>Jr</suffix></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Mignot</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Olivieri</surname><given-names>Ivana</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Orcesi</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Prabhakar</surname><given-names>Prab</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Rasmussen</surname><given-names>Magnhild</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Robert A</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Rozenberg</surname><given-names>Flore</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Schmidt</surname><given-names>Johanna L</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Steindl</surname><given-names>Katharina</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Tiong Y</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>van der Merwe</surname><given-names>William G</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Vanderver</surname><given-names>Adeline</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Vassallo</surname><given-names>Grace</given-names></name><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Wakeling</surname><given-names>Emma L</given-names></name><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Wassmer</surname><given-names>Evangeline</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Whittaker</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Livingston</surname><given-names>John H</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Lebon</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Suzuki</surname><given-names>Tamio</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>McLaughlin</surname><given-names>Paul J</given-names></name><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Keegan</surname><given-names>Liam P</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>O’Connell</surname><given-names>Mary A</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lovell</surname><given-names>Simon C</given-names></name><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</aff><aff id="A2"><label>2</label>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</aff><aff id="A3"><label>3</label>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</aff><aff id="A4"><label>4</label>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</aff><aff id="A5"><label>5</label>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</aff><aff id="A6"><label>6</label>University College London (UCL) Institute of Child Health, London, UK</aff><aff id="A7"><label>7</label>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</aff><aff id="A8"><label>8</label>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</aff><aff id="A9"><label>9</label>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</aff><aff id="A10"><label>10</label>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</aff><aff id="A11"><label>11</label>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</aff><aff id="A12"><label>12</label>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</aff><aff id="A13"><label>13</label>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</aff><aff id="A14"><label>14</label>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</aff><aff id="A15"><label>15</label>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</aff><aff id="A16"><label>16</label>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</aff><aff id="A17"><label>17</label>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</aff><aff id="A18"><label>18</label>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</aff><aff id="A19"><label>19</label>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</aff><aff id="A20"><label>20</label>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</aff><aff id="A21"><label>21</label>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</aff><aff id="A22"><label>22</label>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</aff><aff id="A23"><label>23</label>Service de Neuropédiatrie, AP-HP, Hopital Armand Trousseau, Paris, France</aff><aff id="A24"><label>24</label>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</aff><aff id="A25"><label>25</label>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</aff><aff id="A26"><label>26</label>Department of Neurology, Great Ormond Street Hospital, London, UK</aff><aff id="A27"><label>27</label>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</aff><aff id="A28"><label>28</label>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</aff><aff id="A29"><label>29</label>Department of Neurology, Children’s National Medical Center, Washington, DC, USA</aff><aff id="A30"><label>30</label>Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</aff><aff id="A31"><label>31</label>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</aff><aff id="A32"><label>32</label>Paediatric Department, Nobles Hospital, Strang, UK</aff><aff id="A33"><label>33</label>Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</aff><aff id="A34"><label>34</label>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</aff><aff id="A35"><label>35</label>Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</aff><aff id="A36"><label>36</label>Academic Department of Paediatrics, Imperial College London, London, UK</aff><aff id="A37"><label>37</label>Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</aff><aff id="A38"><label>38</label>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</aff><aff id="A39"><label>39</label>Faculty of Life Sciences, University of Manchester, Manchester, UK</aff><author-notes><corresp id="CR1">Correspondence should be addressed to Y.J.C. (<email>yanickcrow@mac.com</email>)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>29</day><month>8</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>23</day><month>9</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>11</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>9</month><year>2014</year></pub-date><volume>44</volume><issue>11</issue><fpage>1243</fpage><lpage>1248</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.2414</pmc-comment>
<permissions><copyright-statement>© 2012 Nature America, Inc. All rights reserved</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p id="P1">Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in <italic>ADAR1</italic> (also known as <italic>ADAR</italic>) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in <italic>Adar1</italic>-null mice, the human disease state is associated with upregulation of interferon-stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon signaling. Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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